Variant Details

Variant: nsv8227

Internal ID

15499453

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr7:143519748..144378447	hg38	UCSC Ensembl
Outer	chr7:143216841..144075540	hg19	UCSC Ensembl
Outer	chr7:142926963..143706473	hg18	UCSC Ensembl
Outer	chr7:142733678..143513188	hg17	UCSC Ensembl

Cytoband

7q35

Allele length

Assembly	Allele length
hg38	858700
hg19	858700
hg18	779511
hg17	779511

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv16806, nssv16456, nssv16896, nssv16507, nssv15310, nssv15562, nssv19950, nssv15079, nssv16545, nssv16114, nssv16818, nssv18567, nssv16948, nssv16144, nssv17318, nssv15019, nssv16142, nssv15684, nssv16037, nssv18597, nssv18312, nssv16447, nssv15654, nssv14861, nssv17491, nssv17288, nssv16195, nssv18252, nssv14891, nssv16686, nssv15502, nssv16040, nssv16366, nssv14921, nssv16174, nssv15515, nssv16836, nssv16396, nssv19013, nssv16716, nssv17258, nssv16788, nssv16575, nssv16926, nssv16656, nssv19830, nssv15049, nssv18627, nssv16776, nssv15992, nssv19920, nssv15340, nssv19890, nssv15485, nssv18282, nssv16477, nssv16866, nssv18711, nssv15962, nssv15624, nssv16112, nssv16130, nssv15532, nssv16022, nssv15956, nssv19980, nssv18342, nssv15280, nssv19334, nssv16626, nssv19860, nssv16537, nssv17461, nssv16515, nssv16052, nssv15472, nssv16070, nssv16016, nssv16918, nssv15455, nssv18372, nssv16204, nssv17039, nssv16387, nssv18741, nssv15986, nssv16160, nssv18537

Samples

NA18502, NA11830, NA18980, NA07029, NA12155, NA18563, NA12802, NA18860, NA18942, NA10839, NA18975, NA19007, NA10847, NA10863, NA12872, NA18572, NA19221, NA18537, NA18853, NA19132, NA18517, NA18564, NA19240, NA19144, NA19173, NA18972, NA18552

Known Genes

ARHGEF34P, ARHGEF35, ARHGEF5, CTAGE15, CTAGE4, CTAGE6, CTAGE8, EPHA1-AS1, FAM115A, FAM115C, LOC154761, OR2A1, OR2A12, OR2A14, OR2A2, OR2A20P, OR2A25, OR2A42, OR2A5, OR2A7, OR2A9P, OR2F1, OR2F2, OR6B1, RNU6-57P

Method

Oligo aCGH

Analysis

Statistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2

Platform

Agilent-015686 Custom Human 244K CGH Microarray

Comments

Reference

Perry_et_al_2008

Pubmed ID

18304495

Accession Number(s)

nsv8227

Frequency

Sample Size	31
Observed Gain	11
Observed Loss	27
Observed Complex	0
Frequency	n/a